Browsing by Author "Peddle, Allyson"

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    Association of genetic polymorphisms in the Fibroblast Growth Factor 23 genes with fibroblast growth factor 23 levels in South African patients with chronic kidney disease
    (2024) Peddle, Allyson
    Introduction: It is now understood that FGF23 plays a fundamental role in calcium, phosphate and vitamin D homeostasis and that it can be used as an early biomarker of chronic kidney disease mineral and bone disorders (CKD-MBD). The aim of this study is to investigate genetic polymorphisms in South African patients with CKD-MBD which have been associated with circulating FGF23 levels in Caucasian patients in order to improve our understanding of its role in CKD in a South African population. Methods: Study participants included 293 patients with CKD stage 3-5 and 90 apparently normal participants. Whole blood samples were previously collected and FGF23 levels measured using a sandwich based enzyme-linked immunosorbent assay kit. TaqMan® minor allele groove-binding based allelic discrimination assays were used to genotype the three single nucleotide polymorphisms (rs17216707, rs11741640 and rs4075958). Results: No statistically significant difference was seen in the prevalence of rs4075958 and rs17216707 in participants with CKD compared to controls. There was a significant difference (p=0.03) when comparing the circulating levels of FGF23 in CKD between Black African and Caucasian participants. There was no association between any of the three SNP’s and circulating FGF23 level (all p-values > 0.1). There was a significant association between FGF23 and phosphate levels (p=0.00). Conclusion: The lack of correlation is possibly due to low levels of homozygosity in the minor trait in our sample suggesting other factors play a role in the development of CKD and CKD-MBD. This 4 study has added to existing data supporting the association between hypertension, increased phosphate levels and FGF23.